Canonical Allele Identifier: CA8663205
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2779775
ClinVar RCV Id: RCV003665327
dbSNP Id: rs369585713
ExAC: 17:54672009 G / A
gnomAD v2: 17-54672009-G-A
gnomAD v4: 17-56594648-G-A
MyVariant Identifiers: chr17:g.54672009G>A (hg19) chr17:g.56594648G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594648G>A , CM000679.2:g.56594648G>A GRCh38
NC_000017.10:g.54672009G>A , CM000679.1:g.54672009G>A GRCh37
NC_000017.9:g.52027008G>A NCBI36
NG_011958.1:g.5950G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.425G>A MANE Select ENSP00000328181.4:p.Arg142Gln
ENST00000332822.4:c.425G>A ENSP00000328181.4:p.Arg142Gln
NM_005450.4:c.425G>A NP_005441.1:p.Arg142Gln
NM_005450.6:c.425G>A MANE Select NP_005441.1:p.Arg142Gln
Search 100 bp 5'
Search 100 bp 3'